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rs397516295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516295(G;T)
Make rs397516295(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77179044
GeneMYO7A
is asnp
is mentioned by
dbSNPrs397516295
dbSNP (classic)rs397516295
ClinGenrs397516295
ebirs397516295
HLIrs397516295
Exacrs397516295
Gnomadrs397516295
Varsomers397516295
LitVarrs397516295
Maprs397516295
PheGenIrs397516295
Biobankrs397516295
1000 genomesrs397516295
hgdprs397516295
ensemblrs397516295
geneviewrs397516295
scholarrs397516295
googlers397516295
pharmgkbrs397516295
gwascentralrs397516295
openSNPrs397516295
23andMers397516295
SNPshotrs397516295
SNPdbers397516295
MSV3drs397516295
GWAS Ctlgrs397516295
Max Magnitude0
ClinVar
Risk rs397516295(T;T)
Alt rs397516295(T;T)
Reference Rs397516295(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76890090G>T
CLNSRC ClinVar
CLNACC RCV000036082.3,